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Journal of Inherited Metabolic Disease
|
January 1, 1980
Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II
N Gregersen, S Kølvraa, K Rasmussen, et al.
Biochimica Et Biophysica Acta
|
May 24, 1996
Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families
A Cenarro, H K Jensen, E Casao, et al.
Human Mutation
|
January 1, 1996
An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants
L G Jensen, H K Jensen, H Nissen, et al.
Journal of Medical Genetics
|
May 19, 2001
Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy
J Mogensen, P S Andersen, U Steffensen, et al.
Molecular Genetics and Metabolism
|
August 5, 2008
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
S E Waisbren, H L Levy, M Noble, et al.
Clinical Genetics
|
October 1, 1991
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population
D Curtis, A I Blakemore, P C Engel, et al.
JIMD Reports
|
September 26, 2015
Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders
Paula Fernandez-Guerra, M Lund, T J Corydon, et al.
Lancet (London, England)
|
February 2, 1991
Frequency of the G985 MCAD mutation in the general population
A I Blakemore, H Singleton, R J Pollitt, et al.
Progress in Clinical and Biological Research
|
January 1, 1992
Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach
N Gregersen, V Winter, S Kølvraa, et al.
Journal of Molecular Biology
|
December 5, 1992
Acyl-CoA-binding protein/diazepam-binding inhibitor gene and pseudogenes. A typical housekeeping gene family
S Mandrup, R Hummel, S Ravn, et al.
Page
of 21
Search research articles
Search
Showing results (111-120 of 208) with videos related to
Sort By:
Page
of 21
Journal of Inherited Metabolic Disease
|
January 1, 1980
Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II
N Gregersen, S Kølvraa, K Rasmussen, et al.
Biochimica Et Biophysica Acta
|
May 24, 1996
Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families
A Cenarro, H K Jensen, E Casao, et al.
Human Mutation
|
January 1, 1996
An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants
L G Jensen, H K Jensen, H Nissen, et al.
Journal of Medical Genetics
|
May 19, 2001
Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy
J Mogensen, P S Andersen, U Steffensen, et al.
Molecular Genetics and Metabolism
|
August 5, 2008
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
S E Waisbren, H L Levy, M Noble, et al.
Clinical Genetics
|
October 1, 1991
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population
D Curtis, A I Blakemore, P C Engel, et al.
JIMD Reports
|
September 26, 2015
Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders
Paula Fernandez-Guerra, M Lund, T J Corydon, et al.
Lancet (London, England)
|
February 2, 1991
Frequency of the G985 MCAD mutation in the general population
A I Blakemore, H Singleton, R J Pollitt, et al.
Progress in Clinical and Biological Research
|
January 1, 1992
Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach
N Gregersen, V Winter, S Kølvraa, et al.
Journal of Molecular Biology
|
December 5, 1992
Acyl-CoA-binding protein/diazepam-binding inhibitor gene and pseudogenes. A typical housekeeping gene family
S Mandrup, R Hummel, S Ravn, et al.
Page
of 21